Acetyl-coenzyme A transporter 1: Difference between revisions

SLC33A1
Identifiers
Aliases	SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDs	OMIM: 603690; MGI: 1332247; HomoloGene: 3476; GeneCards: SLC33A1; OMA:SLC33A1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	155,854,456 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	63,872,189 bp
RNA expression pattern
	Top expressed in
	corpus epididymis; ; body of pancreas; ; islet of Langerhans; ; sperm; ; endothelial cell; ; seminal vesicula; ; stromal cell of endometrium; ; kidney tubule; ; caput epididymis; ; parietal pleura;
	Top expressed in
	lacrimal gland; ; parotid gland; ; seminal vesicula; ; submandibular gland; ; islet of Langerhans; ; proximal tubule; ; spermatid; ; spermatocyte; ; kidney; ; epithelium of stomach;
	More reference expression data
	n/a
Gene ontology
Molecular function	acetyl-CoA transmembrane transporter activity; solute:proton symporter activity;
Cellular component	integral component of membrane; Golgi membrane; integral component of plasma membrane; endoplasmic reticulum membrane; membrane; endoplasmic reticulum;
Biological process	SMAD protein signal transduction; BMP signaling pathway; transmembrane transport; acetyl-CoA transport; transport; proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	9197
	11416
	ENSG00000169359
	ENSMUSG00000027822
	O00400
	Q99J27
	NM_001190992; NM_004733; NM_001363883
	NM_001272035; NM_015728; NM_001331067
	NP_001177921; NP_004724; NP_001350812
	NP_001258964; NP_001317996; NP_056543
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 14:08, 20 May 2016

Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.^[5]

Function

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.^[5]

Clinical significance

Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000169359 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027822 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

Kanamori, A.; Nakayama, J.; Fukuda, M. N.; Stallcup, W. B.; Sasaki, K.; Fukuda, M.; Hirabayashi, Y. (1997). "Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: A putative acetyl-CoA transporter". Proceedings of the National Academy of Sciences of the United States of America. 94 (7): 2897–2902. doi:10.1073/pnas.94.7.2897. PMC 20294. PMID 9096318.
Jonas, M. C.; Pehar, M.; Puglielli, L. (2010). "AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability". Journal of Cell Science. 123 (19): 3378–3388. doi:10.1242/jcs.068841. PMC 2939804. PMID 20826464.
Schlipf, N. A.; Beetz, C.; Schüle, R.; Stevanin, G.; Erichsen, A. K.; Forlani, S.; Zaros, C. C.; Karle, K.; Klebe, S.; Klimpe, S.; Durr, A.; Otto, S.; Tallaksen, C. M. E.; Riess, O.; Brice, A.; Bauer, P.; Schöls, L. (2010). "A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)". European Journal of Human Genetics. 18 (9): 1065–1067. doi:10.1038/ejhg.2010.68. PMC 2987419. PMID 20461110.
Pehar, M.; Jonas, M. C.; Hare, T. M.; Puglielli, L. (2012). "SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway". Journal of Biological Chemistry. 287 (35): 29921–29930. doi:10.1074/jbc.M112.363911. PMC 3436137. PMID 22787145.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Lin, P.; Li, J.; Liu, Q.; Mao, F.; Li, J.; Qiu, R.; Hu, H.; Song, Y.; Yang, Y.; Gao, G.; Yan, C.; Yang, W.; Shao, C.; Gong, Y. (2008). "A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)". The American Journal of Human Genetics. 83 (6): 752–759. doi:10.1016/j.ajhg.2008.11.003. PMC 2668077. PMID 19061983.
Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P.; Christodoulou, J.; Hillebrand, M.; Pitelet, G.; Wilson, C.; Gruber-Sedlmayr, U.; Ullmann, R.; Haas, S.; Elpeleg, O.; Nürnberg, G.; Nürnberg, P.; Dad, S.; Møller, L. B.; Kaler, S. G.; Gärtner, J. (2012). "Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin". The American Journal of Human Genetics. 90 (1): 61–68. doi:10.1016/j.ajhg.2011.11.030. PMC 3257879. PMID 22243965.
Lin, P.; Mao, F.; Liu, Q.; Shao, C.; Yan, C.; Gong, Y. (2010). "Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused bySLC33A1mutation in a Chinese kindred". Prenatal Diagnosis. 30 (5): 485–486. doi:10.1002/pd.2485. PMID 20306460.
Hirabayashi, Y.; Kanamori, A.; Nomura, K. H.; Nomura, K. (2004). "The acetyl-CoA transporter family SLC33". Pfl�gers Archiv European Journal of Physiology. 447 (5): 760–762. doi:10.1007/s00424-003-1071-6. PMID 12739170. {{cite journal}}: replacement character in |journal= at position 4 (help)

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000169359 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027822 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

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Revision as of 04:43, 28 August 2015 edit Dexbot (talk \| contribs) Bots 192,145 edits m Bot: Deprecating Template:Cite pmid and some minor fixations ← Previous edit		Revision as of 14:08, 20 May 2016 edit undo ProteinBoxBot (talk \| contribs) 187,912 edits Updating to new gene infobox populated via wikidata Next edit →
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	{{~~PBB\|geneid=9197~~}}		{{Infobox_gene}}
	'''Acetyl-coenzyme A transporter 1''' also known as '''solute carrier family 33 member 1''' (SLC33A1) is a [[protein]] that in humans is encoded by the SLC33A1 [[gene]].<ref name="entrez">{{cite web \| title = Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1 \| url = http://www.ncbi.nlm.nih.gov/gene/9197 }}</ref>		'''Acetyl-coenzyme A transporter 1''' also known as '''solute carrier family 33 member 1''' (SLC33A1) is a [[protein]] that in humans is encoded by the SLC33A1 [[gene]].<ref name="entrez">{{cite web \| title = Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1 \| url = http://www.ncbi.nlm.nih.gov/gene/9197 }}</ref>

Revision as of 14:08, 20 May 2016

Function

Clinical significance

References

Further Reading